Genomics England

Respiratory ciliopathies including non-CF bronchiectasis (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R189

Signed off date: 2 Mar 2020

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

46 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ARMC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C11orf70	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf59	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC103	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC114	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC151	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC39	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC65	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCNO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYDIN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRC56	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCIDAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFKB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFKB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIH1D3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PIK3CD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3R1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	RAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCNN1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCNN1B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCNN1G	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC25	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMYND10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Respiratory ciliopathies including non-CF bronchiectasis (Version: 3.02.01.3)

Respiratory ciliopathies including non-CF bronchiectasis (Version: )